Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
D001483:Base Sequence; D001706:Biopsy; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000235:genetics / Q000473:pathology*; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D009092:Mucous Membrane / Q000473:pathology*; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D051190:Plectin; D012867:Skin / Q000473:pathology
D007381:Intermediate Filament Proteins; C495332:PLEC protein, human; D051190:Plectin